Congenital heart disease is defined as the structural, functional or positional defect of the heart in isolation or in combination, present from birth, but may manifest at any time after birth or may not manifest at all.

Congenital heart disease remains a problem of major importance particularly for the family physician, who is first in the line of medical professionals, to diagnose and counsel the patients and the family. It is the most common single group of congenital abnormalities accounting for about 30 percent of the total.

The remaining 15 percent account for a variety of more rare and complex lesions. Congenital heart disease as a whole, occurs with an equal frequency in males and females but some lesions such as aortic stenosis, coarctation of the aorta are more common in males, while patent ductus arteriosus and atrial septal defects are more common in females. About 13 percent of patients with one heart defect, will have an additional cardiac defect. About 10 to 15 percent of patients with heart defect will have another non-cardiac deformity. The risk of siblings being affected by congenital heart disease is between 2 and 4 percent. So, parents who have had one child with congenital heart disease should, if they wish, be advised by a genetic counselor.

ETIOLOGY

No specific causes are found in most cases of congenital malformations of the heart. In a minority cases, clear-cut single causes, either environmental or genetic, are responsible. No good evidence is available implicating interaction of specific genetic and exogenous factors in the causation of cardiac malformation in man, though experiments on animals suggest such an interaction.

Multifactorial CausationThe most acceptable theory for the genetic basis of congenital heart disease is multifactorial hypothesis. It suggests that the abnormalities of genes may not be enough to cause cardiac malformations, but may manifest in presence of above mentioned adverse environmental hazards.

Each group is subdivided according to:
- pulmonary blood flow: increased, decreased or normal
- dominant ventricle - left or right
- pulmonary hypertension - present or absent

The clinical diagnosis of congenital heart is complex when first considered but with sound anatomy and physiologic principles and proper understanding of clinical manifestations, it may become simple. If information is handled with the framework of following figures, the clinical diagnosis becomes simple.

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